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ABGC2 > Cancer (2) > Flashcards

Cancer (2) Flashcards

1
Q

What does DCIS stand for?

A

ductal carinoma in situ

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2
Q

What does LCIS stand for?

A

lobular carcinoma in situ

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3
Q

Are DCIS and LCIS invasive breast cancer?

A

no, but high risk for cancer if untreated

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4
Q

What is atypical ductal or lobular hyperplasia?

A

tissue growth that is at moderate risk for developing into invasive breast cancer (lower risk than DCIS/LCIS)

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5
Q

List 5 risk factors for breast cancer

A
  • early period
  • late menopause
  • nulliparity
  • > 2 alcoholic beverages per week
  • hormone use after menopause
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6
Q

List 4 protective factors for breast cancer

A
  • exercise
  • breast feeding
  • maintaining ideal body weight
  • having children before age 30
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7
Q

What is a PARP?

A

a DNA base excision repair enzyme

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8
Q

Why are PARP inhibitors effective?

A

if PARP is blocked in cells with BRCA1/2 mutations, the cell dies

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9
Q

What type of DNA repair is impaired due to BRCA1/2 mutations?

A

double strand breaks

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10
Q

What is the incidence of BRCA1/2 mutations in the AJ population?

A

1/40

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11
Q

What is the incidence of BRCA1/2 mutations in the non-AJ population?

A

1/500

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12
Q

Other than bilateral breast and ovarian cancer, what are 2 features present with both BRCA1 and BRCA2 mutations?

A
  • male breast cancer

- pancreatic cancer

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13
Q

What are 2 features specific to BRCA1 mutations?

A
  • triple negative breast cancer

- elevated risk for colon cancer

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14
Q

What are 2 features specific to BRCA2 mutations?

A
  • prostate

- melanoma

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15
Q

What is the lifetime risk for breast cancer for:

  • BRCA1
  • BRCA2
A

both: 50-85%

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16
Q

What is the lifetime risk for ovarian cancer for:

  • BRCA1
  • BRCA2
A

BRCA1: 30-45%
BRCA2: 10-20%

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17
Q

What is risk of cancer by age 35 in LFS?

A

50%

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18
Q

What is risk of cancer by age 90 in LFS?

A

near 100%

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19
Q

What brain tumor is highly associated with LFS?

A

choroid plexus tumor

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20
Q

Name 5 cancers associated with LFS

A
  • very early breast
  • sarcomas
  • brain
  • leukemia
  • childhood adrenocortical tumor
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21
Q

What is the lifetime risk of thyroid cancer in Cowden syndrome?

A

10%

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22
Q

What type of thyroid cancer is most common in Cowden syndrome?

A

follicular

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23
Q

Name 7 features associated with Cowden syndrome?

A
  • breast cancer
  • thyroid cancer (follicular)
  • uterine/endometrial cancer and fibroids
  • macrocephaly
  • trichilemmomas/ papillomatous papulues
  • autism
  • LDD rare benign brain tumor
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24
Q

What is a hamartoma?

A

a benign tumor

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25
Q

What are 3 multiple hamartoma syndromes?

A
  • Cowden
  • Bannayan-Riley-Ruvacalba
  • Proteus
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26
Q

What is one common APC mutation associated with a slightly increased risk of colon cancer, not the clinical FAP phenotype?

A

I1307K

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27
Q

How many colon polyps are seen in FAP patients?

A

hundreds to thousands

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28
Q

Around what age do colon polyps appear in FAP?

A

between 7 and 40 y

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29
Q

What is CHRPE?

A

congenital hypertrophy of the retinal pigment epithelium

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30
Q

What is CHRPE associated with?

A

FAP, not AFAP

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31
Q

Other than colon polyps, what for what 6 types of tumors are FAP patients at risk?

A
  • upper GI
  • desmoid
  • osteoma
  • thyroid
  • brain
  • hepatoblastoma
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32
Q

When does AFAP onset?

A

50y

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33
Q

How many polyps are typically seen in AFAP patients?

A

20-100

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34
Q

What types of mutations cause AFAP?

A

APC mutations near the ends of the gene

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35
Q

What is the inheritance pattern of MAP?

A

AR

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36
Q

What is the carrier frequency of MAP?

A

1/100

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37
Q

How many colon polyps are seen in MAP?

A

15-999

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38
Q

Around what age does MAP onset?

A

50y

39
Q

Name 4 increased cancer risks in MAP other than colon

A
  • duodenal
  • ovarian
  • bladder
  • skin
40
Q

Is cancer associated with Lynch or FAP usually more aggressive?

A

FAP

41
Q

Is cancer associated with Lynch or sporadic cancer usually more aggressive?

A

sporadic

42
Q

Where do FAP and sporadic colon cancers usually occur?

A

descending colon and sigmoid

43
Q

Where do Lynch colon cancers usually occur?

A

right sided colon (between splenic flexure and ileocecal junction)

44
Q

Is EPCAM a MMR gene?

A

no

45
Q

What do errors in mismatch repair lead to?

A

MSI

46
Q

If a somatic MLH1 mutation / loss of MLH1 expression is seen, what is it usually due to?

A

germline BRAF mutation

47
Q

What types of mutations are usually seen in MMR genes?

A

mutation by promoter methylation, not be sequence mutation

48
Q

What 2 risks exist with homozygous loss of PMS2?

A
  • very young colon cancer

- brain tumors

49
Q

What is MSI-high / MSI-low / MSI-stable?

A

MSI-high and -low both show microsatellite instability, while MSI-stable does not

50
Q

List the dimers in MMR proteins:

A
  • MSH2 w/ MSH6 or MSH3

- MLH1 w/ PMS2 or PMS1

51
Q

Which 2 MMR genes are unstable if not paired?

A

MSH6 and PMS2

52
Q

Around what age does Lynch colon cancer usually onset?

A

younger than 50y

53
Q

How many colon polyps are usually seen in Lynch?

A

under 20

54
Q

What is the lifetime risk of endometrial cancer in Lynch?

A

40-60%

55
Q

List 3 cancers with increased risk in Lynch

A
  • colon
  • endometrial
  • stomach
56
Q

Name 2 hereditary cancer syndromes with increased risk for endometrial/uterine cancer

A
  • Lynch

- Cowden

57
Q

What is the purpose of the Amsterdam criteria?

A

to give a clinical diagnosis of Lynch syndrome

58
Q

What is the purpose of the Bethesda guidelines?

A

to determine whether or not a tumor should be tested for MSI/IHC

59
Q

What are the 2 Amsterdam criteria?

A
  • FAP excluded
  • 3+ relatives with colorectal cancer (in 2 or more generations, 1 is first-degree relative of other 2, one occurred before age 50)
60
Q

What are the 5 Bethesda guidelines?

A
  • colorectal cancer diagnosis under 50
  • MSI in a tumor under 60
  • presence of chronus tumors or other Lynch cancers
  • Lynch cancer under 50 in a first degree relative
  • Lynch cancers in 2 relatives (1st or 2nd degree)
61
Q

What other hereditary cancer syndrome is Muir-Torre syndrome associated with?

A

it is a variant of Lynch

62
Q

In addition to Lynch features, what are 2 additional features seen in Muir-Torre syndrome?

A
  • sebaceous cancer

- keratoacanthomas

63
Q

What are the 2 features of Turcot syndrome?

A
  • colorectal adenomas

- brain tumors

64
Q

What 2 genotype/phenotype associations exist in Turcot syndrome?

A

APC > medulloblastoma

MMR > glioblastoma

65
Q

What are 2 features of PJS?

A
  • > 100 GI hamartomas

- dark pigmentation and freckling on mouth, fingers, toes

66
Q

Where are polyps found in JPS (2)?

A
  • colon

- stomach

67
Q

What type of breast cancer is there increased risk for in hereditary diffuse gastric cancer?

A

lobular

68
Q

Which hereditary cancer syndrome is associated with a LDD benign brain tumor?

A

Cowden

69
Q

Which hereditary cancer syndrome is associated with bladder cancer?

A

MUTYH-associated polyposis

70
Q

Which hereditary cancer syndrome is associated with upper-GI cancer?

A

FAP

71
Q

Which hereditary cancer syndrome is associated with early prostate cancer?

A

BRCA2

72
Q

Which hereditary cancer syndrome is associated with a speckled penis?

A

B-R-R

73
Q

Which multiple hamartoma syndrome is associated with overgrowth?

A

Proteus

74
Q

Which 2 hereditary cancer syndromes have several hundreds of colon polyps?

A

FAP

MAP

75
Q

What is the purpose of the Gail model?

A

to estimate breast cancer risk

76
Q

What is the purpose of the Claus model?

A

to estimate breast cancer risk

77
Q

What is the purpose of the IBIS / Tyrer-Cuzik model?

A

to estimate breast cancer risk and probability of a BRCA1/2 mutation

78
Q

What is the purpose of the Couch II / Penn II model?

A

to estimate probability of a BRCA1/2 mutation

79
Q

What is the purpose of the Myriad model?

A

to estimate probability of a BRCA1/2 mutation

80
Q

What is the purpose of the BRCAPRO (Berry/Parmigiani) model?

A

to estimate probability of a BRCA1/2 mutation

81
Q

What is the purpose of the BODICEA model?

A

to estimate probability of a BRCA1/2 mutation

82
Q

What is the purpose of the Cleveland Clinic Risk Calculator?

A

to estimate probability of a PTEN mutation

83
Q

What is the purpose of the PREMM1,2 model?

A

to estimate probability of MLH1, MSH2, MSH6 mutation

84
Q

Is the population of the Gail or the Claus model women who have personal history of breast cancer?

A

Claus

85
Q

Does the Gail or Claus model use only age and cancer as risk determinants?

A

Claus

86
Q

Does the Gail or Claus model give risk for only breast cancer?

A

Gail

87
Q

Does the Gail or Claus model exclude paternal history and ovarian cancer?

A

Gail

88
Q

Does the Gail or Claus model use age at onset of familial cancers?

A

Claus

89
Q

Which lifetime breast cancer risk model utilizes a comprehensive personal medical history?

A

IBIS / Tyrer-Cuzik

90
Q

Which BRCA1/2 risk model(s) look(s) at cancers other than breast and ovarian?

A
  • Couch II / Penn II

- BODICEA

91
Q

Does the IBIS / Tyrer-Cuzik model tend to over- or underestimate lifetime risk of breast cancer?

A

over

92
Q

Is the Gail or Claus model for breast cancer risk more useful when family history is limited?

A

Gail

93
Q

Which model determines eligibility for chemoprevention?

A

Gail

94
Q

What are 2 types of ovarian cancer associated with HBOC?

A
  • fallopian tube

- primary peritoneal

ABGC2 (12 decks)

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